ClinVar Miner

Submissions for variant NM_000514.4(GDNF):c.138G>A (p.Ala46=)

gnomAD frequency: 0.00010  dbSNP: rs375385439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595359 SCV000702720 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV000595359 SCV001007460 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935595 SCV004748395 likely benign GDNF-related condition 2019-06-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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